Gaucher Disease Insights

In a study by Çalışkan et al. (2025), 29 Turkish patients with Type 1 Gaucher Disease (GD) were retrospectively analyzed to understand the relationship between genetic mutations and clinical outcomes. The patients, with a mean diagnosis age of 22.1 years, often had a significant family history of the disease and consanguineous parents. The most common symptom before diagnosis was epistaxis, occurring in 72% of the cases.

Enzyme replacement therapy significantly improved blood hemoglobin levels by 21.1%, platelet count by 86.1%, and reduced liver and spleen size by 10.02% and 25.22%, respectively. Genetic analysis revealed seven mutations, with c.1226A>G (p.N409S) being the most prevalent. The study by Çalışkan et al. underscores the importance of considering GD in patients with specific symptoms and the need for personalized treatment strategies based on the genetic heterogeneity observed.